ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
PRRT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 890 | |
SRCAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1439 | 1460 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 557 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 310 |
BOLA2B | - | - | - |
GRCh38 GRCh37 |
- | 97 |
C16orf92 | - | - |
GRCh38 GRCh37 |
2 | 294 | |
CD2BP2 | - | - |
GRCh38 GRCh37 |
20 | 42 | |
CDIPT | - | - |
GRCh38 GRCh37 |
13 | 296 | |
CORO1A | - | - |
GRCh38 GRCh37 |
236 | 467 | |
DCTPP1 | - | - |
GRCh38 GRCh37 |
11 | 35 |
There are 34 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 27, 2020 | RCV001801218.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022